| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
4
|
12
|
No
|
Microcephaly
Dystonia, limb Abnormal central motor function Dystonia, craniofacial Abnormality of skeletal morphology Dystonia, axial Dystonia, oromandibular Short stature Dystonia (any or unspecified) Dysarthria Dysmorphic features Developmental regression Show more (+9) |
Developmental regression
|